Linked Data
dbSNP Id:
rs763810037
ExAC:
4:74283860 A / G
gnomAD v2:
4-74283860-A-G
gnomAD v4:
4-73418143-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73418143A>G , CM000666.2:g.73418143A>G | GRCh38 |
| NC_000004.11:g.74283860A>G , CM000666.1:g.74283860A>G | GRCh37 |
| NC_000004.10:g.74502724A>G | NCBI36 |
| NG_009291.1:g.18889A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1484A>G MANE Select | ENSP00000295897.4:p.Asp495Gly | |
| ENST00000295897.8:c.1484A>G | ENSP00000295897.4:p.Asp495Gly | |
| ENST00000401494.7:c.1139A>G | ENSP00000384695.3:p.Asp380Gly | |
| ENST00000415165.6:c.908A>G | ENSP00000401820.2:p.Asp303Gly | |
| ENST00000476441.6:c.*763A>G | ENSP00000423727.1:n.*763A>G | |
| ENST00000486939.1:n.138A>G | ||
| ENST00000503124.5:c.1034A>G | ENSP00000421027.1:p.Asp345Gly | |
| ENST00000505649.5:n.1031A>G | ||
| ENST00000509063.5:c.1484A>G | ENSP00000422784.1:p.Asp495Gly | |
| ENST00000511370.1:c.1017A>G | ||
| ENST00000621085.4:c.845A>G | ENSP00000483421.1:p.Asp282Gly | |
| ENST00000621628.4:c.845A>G | ENSP00000480485.1:p.Asp282Gly | |
| NM_000477.5:c.1484A>G | NP_000468.1:p.Asp495Gly | |
| NM_000477.6:c.1484A>G | NP_000468.1:p.Asp495Gly | |
| NM_000477.7:c.1484A>G MANE Select | NP_000468.1:p.Asp495Gly |